Rare Disease Ages Kids Rapidly

For the first nine months of Sam Berns' life, everything seemed normal. He learned to walk, but then his parents noticed something different.

"Something was wrong," remembers his mother, Leslie Gordon. "I kept saying, you know, there's something going on, there's something going on. Maybe at first it was just a feeling more than anything."

It seemed Sam's growth had slowed dramatically. After a year, doctors ultimately diagnosed him with a genetic disease so rare that it affects just one in 8 million children. Only 40 children in the world are known to have the disease.

The disease, progeria, ages children at up to 10 times the normal rate. They stop growing prematurely, then lose their hair and get arthritis. Some children suffer strokes by the time they are 4 or 5. There is no known treatment or cure, and most patients die of heart disease by the age of 13.

For Sam's parents — both doctors who understood the significance of the diagnosis — the news was devastating.

"I'm trained in pediatric emergency medicine," his father, Scott Berns, told Primetime. "My mindset is to go in and to help and to fix things. And now we're told we have a diagnosis of progeria and there's nothing you can do about it. Your son's going to die."

They were determined to do something. Gordon devoted herself full time to researching her son's disease. She soon learned that there is almost no information about the disease, and no organization fighting for the kids suffering from it.

Berns and Gordon created a nonprofit organization, the Progeria Research Foundation, to collect information about the disease and raise money to fund research.

Like a Needle in a Haystack

Progeria — which gets its name from the Greek for "prematurely old" — is a gene mutation. But scientists had not identified which gene or genes were responsible for the disease, so they had no idea even how to start hunting for a cure.

With most genetic diseases, researchers are able to examine family trees to see how diseases recur, cross-referencing the information to narrow the hunt. But with progeria sufferers seldom living into their teens, there were no family trees to study.

"If you don't even know at the most fundamental level what's wrong in an illness, how could you possibly figure out what to do for it?" says Dr. Francis Collins, the director of the National Human Genome Research Institute at the National Institutes of Health.

But Gordon was determined to try. She contacted all the families she could find who had been affected by progeria — families all over the world — and asked them to provide tissue samples to help her develop a cell and tissue bank that could help researchers identify the gene causing the disease.

Less than a year later, Collins' team at the NIH called Berns and Gordon with good news: By comparing the genetic samples collected by the foundation with a normal human gene structure, they had found a common chromosome glitch that almost all of the progeria-afflicted children shared.

"We found the cause of progeria," Collins told them over the phone. Researchers now had a starting point for understanding the disease.

The discovery could potentially be the first step toward finding a cure for the rare disease and possibly even a way to combat the diseases of aging in the general population — the long-sought Fountain of Youth.